COSMIC: exploring the world's knowledge of somatic mutations in human cancer.
Bottom Line: To emphasize depth of knowledge on known cancer genes, mutation information is curated manually from the scientific literature, allowing very precise definitions of disease types and patient details.In addition, COSMIC also details more than six million noncoding mutations, 10,534 gene fusions, 61,299 genome rearrangements, 695,504 abnormal copy number segments and 60,119,787 abnormal expression variants.All these types of somatic mutation are annotated to both the human genome and each affected coding gene, then correlated across disease and mutation types.
Affiliation: Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK, CB10 1SA. firstname.lastname@example.org.Show MeSH
Related in: MedlinePlus
Mentions: The COSMIC website is available at http://cancer.sanger.ac.uk. Designed to make entry to COSMIC easy via one search box, the homepage (Figure 1) also provides access to a number of related resources. Three parallel websites allow the exploration of components of the COSMIC system. ‘COSMIC cell line project’ exclusively displays the results of genomic analysis across a large set of common cancer cell lines, currently numbering 1015 but expected to grow toward 1500. ‘COSMIC whole genomes’ displays only the genome-wide tumor analyses integrated into COSMIC, providing a view across the breadth of cancer genome data without any specific biases introduced via literature curation. ‘COSMIC’ displays all the data brought into the system across the project's life, including cell lines, whole genomes and all genome-wide and gene-specific literature curations. Additionally, ‘COSMIC genome browser’ provides a genomic view across all COSMIC data types, aligned with many annotations from Ensembl, including noncoding RNAs (not yet included in the COSMIC website). ‘Census’ shows a listing of all the genes in the Cancer Gene Census including the details on disease causation and mutation mechanisms. Finally, ‘Drug Sensitivity’ links to a parallel resource in the team, describing the relationship, across more than 700 cell lines, between original disease, mutant genotype and response to a range of anticancer drugs. (9).
Affiliation: Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK, CB10 1SA. email@example.com.